Canonical Allele Identifier: CA2843744568

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063359_43063360del , CM000679.2:g.43063359_43063360del	GRCh38
NC_000017.10:g.41215376_41215377del , CM000679.1:g.41215376_41215377del	GRCh37
NC_000017.9:g.38468902_38468903del	NCBI36
NG_005905.2:g.154625_154626del , LRG_292:g.154625_154626del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5164_5165del	ENSP00000417241.2:p.Ile1722Ter
ENST00000470026.6:c.5167_5168del	ENSP00000419274.2:p.Ile1723Ter
ENST00000473961.6:c.5041_5042del	ENSP00000420201.2:p.Ile1681Ter
ENST00000476777.6:c.5161_5162del	ENSP00000417554.2:p.Ile1721Ter
ENST00000477152.6:c.5089_5090del	ENSP00000419988.2:p.Ile1697Ter
ENST00000478531.6:c.1855_1856del	ENSP00000420412.2:p.Ile619Ter
ENST00000489037.2:c.5089_5090del	ENSP00000420781.2:p.Ile1697Ter
ENST00000493919.6:c.1717_1718del	ENSP00000418819.2:p.Ile573Ter
ENST00000494123.6:c.5167_5168del	ENSP00000419103.2:p.Ile1723Ter
ENST00000497488.2:c.4279_4280del	ENSP00000418986.2:p.Ile1427Ter
ENST00000618469.2:c.5167_5168del	ENSP00000478114.2:p.Ile1723Ter
ENST00000634433.2:c.5044_5045del	ENSP00000489431.2:p.Ile1682Ter
ENST00000644379.2:c.5233_5234del	ENSP00000496570.2:p.Ile1745Ter
ENST00000644555.2:c.1717_1718del	ENSP00000494614.2:p.Ile573Ter
ENST00000652672.2:c.5026_5027del	ENSP00000498906.2:p.Ile1676Ter
ENST00000484087.6:c.1729_1730del	ENSP00000419481.2:p.Ile577Ter
ENST00000357654.9:c.5167_5168del MANE Select	ENSP00000350283.3:p.Ile1723Ter
ENST00000471181.7:c.5230_5231del	ENSP00000418960.2:p.Ile1744Ter
ENST00000644379.1:c.1554_1555del
ENST00000352993.7:c.1741_1742del	ENSP00000312236.5:p.Ile581Ter
ENST00000357654.7:c.5167_5168del	ENSP00000350283.3:p.Ile1723Ter
ENST00000461221.5:c.*4950_*4951del	ENSP00000418548.1:n.*4950_*4951del
ENST00000468300.5:c.1855_1856del	ENSP00000417148.1:p.Ile619Ter
ENST00000471181.6:c.5230_5231del	ENSP00000418960.2:p.Ile1744Ter
ENST00000478531.5:c.1855_1856del	ENSP00000420412.1:p.Ile619Ter
ENST00000484087.5:c.1480_1481del	ENSP00000419481.1:p.Ile494Ter
ENST00000491747.6:c.1855_1856del	ENSP00000420705.2:p.Ile619Ter
ENST00000493795.5:c.5026_5027del	ENSP00000418775.1:p.Ile1676Ter
ENST00000586385.5:c.97_98del	ENSP00000465818.1:p.Ile33Ter
ENST00000591534.5:c.640_641del	ENSP00000467329.1:p.Ile214Ter
ENST00000591849.5:c.-98-13169_-98-13168del	ENSP00000465347.1:n.-98-13169_-98-13168del
NM_007294.3:c.5167_5168del , LRG_292t1:c.5167_5168del	NP_009225.1:p.Ile1723Ter
NM_007297.3:c.5026_5027del	NP_009228.2:p.Ile1676Ter
NM_007298.3:c.1855_1856del	NP_009229.2:p.Ile619Ter
NM_007299.3:c.1855_1856del	NP_009230.2:p.Ile619Ter
NM_007300.3:c.5230_5231del	NP_009231.2:p.Ile1744Ter
NR_027676.1:n.5303_5304del
NM_007294.4:c.5167_5168del MANE Select	NP_009225.1:p.Ile1723Ter
NM_007297.4:c.5026_5027del	NP_009228.2:p.Ile1676Ter
NM_007299.4:c.1855_1856del	NP_009230.2:p.Ile619Ter
NM_007300.4:c.5230_5231del	NP_009231.2:p.Ile1744Ter
NR_027676.2:n.5344_5345del